Estelle Healy

BAG3 mutations: another cause of giant axonal neuropathy

Fatima Jaffer, Sinéad M. Murphy, Mariacristina Scoto et al. · Journal of the Peripheral Nervous System · 2012 · 73 citations

Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis

Qiang Gang, Conceição Bettencourt, Pedro Machado et al. · Neurobiology of Aging · 2016 · 52 citations · Full text

Atypical periodic paralysis and myalgia

Emma Matthews, Christoph Neuwirth, Fatima Jaffer et al. · Neurology · 2018 · 50 citations · Full text

Two recurrent mutations are associated with GNE myopathy in the North of Britain

Amina Chaouch, Kathryn M. Brennan, Judith A. Hudson et al. · Journal of Neurology Neurosurgery & Psychiatry · 2014 · 39 citations · Full text

Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis

Silvia Corrochano, Roope Männikkö, Peter I. Joyce et al. · Brain · 2014 · 26 citations · Full text

Muscle Function, Equivalent Point Mutation, Periodic Paralysis +19